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STAT2 signal transducer and activator of transcription 2 [ Homo sapiens (human) ]

Gene ID: 6773, updated on 1-Aug-2020

Summary

Official Symbol
STAT2provided by HGNC
Official Full Name
signal transducer and activator of transcription 2provided by HGNC
Primary source
HGNC:HGNC:11363
See related
Ensembl:ENSG00000170581 MIM:600556
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
P113; IMD44; ISGF-3; PTORCH3; STAT113
Summary
The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. Transcription adaptor P300/CBP (EP300/CREBBP) has been shown to interact specifically with this protein, which is thought to be involved in the process of blocking IFN-alpha response by adenovirus. Mutations in this gene result in Immunodeficiency 44. [provided by RefSeq, Jul 2020]
Expression
Ubiquitous expression in spleen (RPKM 31.9), appendix (RPKM 25.0) and 25 other tissues See more
Orthologs

Genomic context

See STAT2 in Genome Data Viewer
Location:
12q13.3
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (56341597..56360161, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56735381..56754058, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene canopy FGF signaling regulator 2 Neighboring gene poly(A) specific ribonuclease subunit PAN2 Neighboring gene interleukin 23 subunit alpha Neighboring gene RNA, U7 small nuclear 40 pseudogene Neighboring gene apolipoprotein F Neighboring gene apolipoprotein N, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Immunodeficiency 44
MedGen: C4225260 OMIM: 616636 GeneReviews: Not available
Compare labs
PSEUDO-TORCH SYNDROME 3
MedGen: CN280969 OMIM: 618886 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
NHGRI GWA Catalog
Genome-wide association study in Han Chinese identifies three novel loci for human height.
NHGRI GWA Catalog
Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 activates both STAT1 and STAT2 in primary human monocyte-derived dendritic cells PubMed
Nef nef TRAF2 and TRAF6 proteins are required for the HIV-1 Nef-induced tyrosine phosphorylation of STAT1 and STAT2 proteins. Both myristoylation and acidic cluster of Nef are essential to induce the tyrosine phosphorylation PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC59816

Gene Ontology Provided by GOA

Process Evidence Code Pubs
JAK-STAT cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
defense response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
defense response to virus IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cell proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of mitochondrial fission IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
response to peptide hormone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
type I interferon signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
type I interferon signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
type I interferon signaling pathway TAS
Traceable Author Statement
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
signal transducer and activator of transcription 2
Names
interferon alpha induced transcriptional activator
signal transducer and activator of transcription 2, 113kDa

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_046314.1 RefSeqGene

    Range
    5147..23657
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1329

mRNA and Protein(s)

  1. NM_001385110.1NP_001372039.1  signal transducer and activator of transcription 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC025574
  2. NM_001385111.1NP_001372040.1  signal transducer and activator of transcription 2 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC025574
  3. NM_001385113.1NP_001372042.1  signal transducer and activator of transcription 2 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC025574
  4. NM_001385114.1NP_001372043.1  signal transducer and activator of transcription 2 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC025574
  5. NM_001385115.1NP_001372044.1  signal transducer and activator of transcription 2 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC025574
  6. NM_005419.4NP_005410.1  signal transducer and activator of transcription 2 isoform 1

    See identical proteins and their annotated locations for NP_005410.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    BC051284, DB482283
    Consensus CDS
    CCDS8917.1
    UniProtKB/Swiss-Prot
    P52630
    UniProtKB/TrEMBL
    R9QE65
    Related
    ENSP00000315768.4, ENST00000314128.9
    Conserved Domains (5) summary
    cd10373
    Location:556706
    SH2_STAT2; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 2 proteins
    smart00964
    Location:2124
    STAT_int; STAT protein, protein interaction domain
    pfam01017
    Location:142314
    STAT_alpha; STAT protein, all-alpha domain
    pfam02864
    Location:316565
    STAT_bind; STAT protein, DNA binding domain
    pfam12188
    Location:783838
    STAT2_C; Signal transducer and activator of transcription 2 C terminal
  7. NM_198332.2NP_938146.1  signal transducer and activator of transcription 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (2) lacks an internal 4-aa segment, compared to isoform 1.
    Source sequence(s)
    AK296939, BC051284
    Consensus CDS
    CCDS55836.1
    UniProtKB/Swiss-Prot
    P52630
    Related
    ENSP00000450751.1, ENST00000557235.5
    Conserved Domains (5) summary
    cd10373
    Location:552702
    SH2_STAT2; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 2 proteins
    smart00964
    Location:2120
    STAT_int; STAT protein, protein interaction domain
    pfam01017
    Location:138310
    STAT_alpha; STAT protein, all-alpha domain
    pfam02864
    Location:312561
    STAT_bind; STAT protein, DNA binding domain
    pfam12188
    Location:779834
    STAT2_C; Signal transducer and activator of transcription 2 C terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    56341597..56360161 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538697.2XP_011536999.1  signal transducer and activator of transcription 2 isoform X1

    Conserved Domains (5) summary
    cd10373
    Location:564714
    SH2_STAT2; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 2 proteins
    smart00964
    Location:2124
    STAT_int; STAT protein, protein interaction domain
    pfam01017
    Location:142314
    STAT_alpha; STAT protein, all-alpha domain
    pfam02864
    Location:316573
    STAT_bind; STAT protein, DNA binding domain
    pfam12188
    Location:791846
    STAT2_C; Signal transducer and activator of transcription 2 C terminal
  2. XM_011538698.3XP_011537000.1  signal transducer and activator of transcription 2 isoform X2

    Conserved Domains (5) summary
    cd10373
    Location:560710
    SH2_STAT2; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 2 proteins
    smart00964
    Location:2120
    STAT_int; STAT protein, protein interaction domain
    pfam01017
    Location:138310
    STAT_alpha; STAT protein, all-alpha domain
    pfam02864
    Location:312569
    STAT_bind; STAT protein, DNA binding domain
    pfam12188
    Location:787842
    STAT2_C; Signal transducer and activator of transcription 2 C terminal
  3. XM_017019904.2XP_016875393.1  signal transducer and activator of transcription 2 isoform X5

    Related
    ENST00000652091.1
  4. XM_011538700.2XP_011537002.1  signal transducer and activator of transcription 2 isoform X4

    Conserved Domains (4) summary
    cd10373
    Location:320470
    SH2_STAT2; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 2 proteins
    pfam01017
    Location:1870
    STAT_alpha; STAT protein, all-alpha domain
    pfam02864
    Location:72329
    STAT_bind; STAT protein, DNA binding domain
    pfam12188
    Location:547602
    STAT2_C; Signal transducer and activator of transcription 2 C terminal
  5. XM_011538699.3XP_011537001.1  signal transducer and activator of transcription 2 isoform X3

    Conserved Domains (4) summary
    smart00964
    Location:2124
    STAT_int; STAT protein, protein interaction domain
    pfam01017
    Location:142314
    STAT_alpha; STAT protein, all-alpha domain
    pfam02864
    Location:316573
    STAT_bind; STAT protein, DNA binding domain
    cl15255
    Location:564584
    SH2; Src homology 2 (SH2) domain

RNA

  1. XR_001748856.1 RNA Sequence

    Related
    ENST00000650805.1
  2. XR_001748857.1 RNA Sequence

    Related
    ENST00000651805.1
  3. XR_002957375.1 RNA Sequence

    Related
    ENST00000652741.1
  4. XR_001748858.2 RNA Sequence

  5. XR_002957376.1 RNA Sequence

    Related
    ENST00000651301.1
  6. XR_245953.3 RNA Sequence

    Related
    ENST00000418572.7
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